Results 101 to 110 of about 104,697 (299)

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Mitochondria transplantation transiently rescues cerebellar neurodegeneration improving mitochondrial function and reducing mitophagy in mice

Nature Communications
Cerebellar ataxia is the primary manifestation of cerebellar degenerative diseases, and mitochondrial dysfunction in Purkinje cells (PCs) plays a critical role in disease progression.
Shu-Jiao Li, Qian-Wen Zheng, Jie Zheng, Jin-Bao Zhang, Hui Liu, Jing-Jing Tie, Kun-Long Zhang, Fei-Fei Wu, Xiao-Dong Li, Shuai Zhang, Xin Sun, Yan-Ling Yang, Ya-Yun Wang   +12 more
doaj   +1 more source

Cerebellar Disorders [PDF]

, 2010
During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion ...

core   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]

, 2015
Spinocerebellar Ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1
Veneziano, L, Frontali, M, Mantuano, E, Liana eVeneziano, Elide Mantuano, Liana Veneziano, Giunti, P, Elide eMantuano, Marina Frontali, Paola eGiunti, Marina eFrontali, Paola Giunti   +11 more
core   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Brain susceptibility imaging provides valuable in vivo insights into cerebellar diseases, but biological interpretations remain elusive. [PDF]

Brain Commun, 2022
Harding IH, Ward PGD.
europepmc   +1 more source

Cerebellar cryptococcosis characterized by a space-occupying lesion in an immunocompetent non-HIV patient [PDF]

, 2014
Bi-Xia Liu,1,* Xi-Jian Dai,2,3,* Heng Liu,4,* Hong-Han Gong,3 Yi-Xiang J Wang,2 Lun-Li Zhang1 1Department of Infectious Diseases, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China; 2Department of ...
Liu H, Zhang LL, Liu BX, Dai XJ, Wang YX, Gong HH   +5 more
core  

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Tommaso Pippucci (497773), Antonia Parmeggiani (497774), Parmeggiani, A., Cucca, Francesco, F. Cucca, Crisponi, Laura, A. Angius, Valentino, M. L., Valerio Carelli (24588), Maresca, Alessandra, F. Palombo, Flavia Palombo, Alessandra Maresca, Flavia Palombo (497775), Laura Crisponi (186209), Palombo, Flavia, Laura Crisponi, Francesco Cucca (145742), Francesco Cucca, Seri, Marco, L. Crisponi, Carelli, V., Marco Seri (497777), Liguori, Rocco, Liguori, R., Seri, M., Pippucci, Tommaso, Maria Lucia Valentino, Parmeggiani, Antonia, Angius, A., Valentino, Maria Lucia, Angius, Andrea, Maria Lucia Valentino (144915), Valerio Carelli, Rocco Liguori (144916), Andrea Angius, Carelli, Valerio, Andrea Angius (374302), Antonia Parmeggiani, Marco Seri, Pippucci, T., Alessandra Maresca (497776), Rocco Liguori, Palombo, F., Cucca, F., Tommaso Pippucci, Maresca, A.   +46 more
core   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +1 more source